Incidental Mutation 'IGL02223:Trpv2'
ID 285222
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trpv2
Ensembl Gene ENSMUSG00000018507
Gene Name transient receptor potential cation channel, subfamily V, member 2
Synonyms Vrl1, OTRPC2, VRL-1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.668) question?
Stock # IGL02223
Quality Score
Status
Chromosome 11
Chromosomal Location 62465312-62491131 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62472081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 91 (L91P)
Ref Sequence ENSEMBL: ENSMUSP00000099703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018651] [ENSMUST00000102643]
AlphaFold Q9WTR1
Predicted Effect probably benign
Transcript: ENSMUST00000018651
AA Change: L91P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000018651
Gene: ENSMUSG00000018507
AA Change: L91P

DomainStartEndE-ValueType
Blast:ANK 70 99 2e-8 BLAST
ANK 111 143 9.33e2 SMART
ANK 158 187 1.83e-3 SMART
ANK 204 233 1.46e2 SMART
Blast:ANK 241 274 1e-10 BLAST
ANK 289 319 3.04e0 SMART
Pfam:Ion_trans 387 652 2.3e-12 PFAM
Blast:PHB 674 726 4e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000102643
AA Change: L91P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099703
Gene: ENSMUSG00000018507
AA Change: L91P

DomainStartEndE-ValueType
Blast:ANK 70 99 2e-8 BLAST
ANK 111 143 9.33e2 SMART
ANK 158 187 1.83e-3 SMART
ANK 204 233 1.46e2 SMART
Blast:ANK 241 274 1e-10 BLAST
ANK 289 319 3.04e0 SMART
transmembrane domain 388 410 N/A INTRINSIC
Pfam:Ion_trans 434 640 8.9e-10 PFAM
Blast:PHB 674 726 4e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153486
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired macrophage migration, binding, and phagocytosis with increased susceptiblity and mortality following bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,506,909 (GRCm39) W1148* probably null Het
Adam17 A G 12: 21,411,706 (GRCm39) S62P possibly damaging Het
Akap8 T C 17: 32,535,621 (GRCm39) Y131C probably damaging Het
Ccdc169 A G 3: 55,049,721 (GRCm39) N48S probably benign Het
Ccdc80 A G 16: 44,915,966 (GRCm39) T241A probably damaging Het
Cct7 G T 6: 85,439,023 (GRCm39) M112I probably benign Het
Cftr G A 6: 18,221,481 (GRCm39) A198T probably damaging Het
Crk T C 11: 75,594,205 (GRCm39) V264A probably damaging Het
Dhx34 T C 7: 15,932,584 (GRCm39) T1071A probably benign Het
Dlst A G 12: 85,177,692 (GRCm39) I362V probably benign Het
Fat2 T C 11: 55,163,955 (GRCm39) E3100G probably benign Het
Fbxo11 A G 17: 88,316,714 (GRCm39) V323A probably benign Het
Foxe3 C A 4: 114,782,906 (GRCm39) R102L probably damaging Het
Gale T C 4: 135,693,817 (GRCm39) F162S probably damaging Het
Gipc2 G A 3: 151,833,687 (GRCm39) P198L probably damaging Het
Gm5258 A G 1: 86,251,118 (GRCm39) noncoding transcript Het
Gpatch11 A G 17: 79,152,608 (GRCm39) T259A probably benign Het
H2-M10.3 T C 17: 36,678,972 (GRCm39) N32S possibly damaging Het
Hdlbp T C 1: 93,340,171 (GRCm39) I999V probably damaging Het
Ibtk A G 9: 85,592,419 (GRCm39) probably benign Het
Ift46 A G 9: 44,697,609 (GRCm39) S165G probably damaging Het
Igsf1 A G X: 48,873,897 (GRCm39) S389P probably damaging Het
Lrrd1 A C 5: 3,900,211 (GRCm39) N172T probably benign Het
Mamdc2 G A 19: 23,336,507 (GRCm39) probably benign Het
Matn2 A G 15: 34,423,864 (GRCm39) N574S probably benign Het
Med1 T C 11: 98,048,702 (GRCm39) D683G probably damaging Het
Mon1a A G 9: 107,778,484 (GRCm39) E236G probably damaging Het
Moxd2 T A 6: 40,861,967 (GRCm39) I202F probably damaging Het
Nif3l1 T A 1: 58,487,202 (GRCm39) Y129* probably null Het
Nlrp5 T C 7: 23,129,447 (GRCm39) probably benign Het
Odad3 G A 9: 21,904,908 (GRCm39) R293C probably damaging Het
Or5k14 C T 16: 58,693,057 (GRCm39) G152E probably damaging Het
Pcx T C 19: 4,652,006 (GRCm39) Y84H probably damaging Het
Pom121l2 T C 13: 22,166,265 (GRCm39) S179P probably benign Het
Rexo4 C A 2: 26,845,511 (GRCm39) C369F probably damaging Het
Rigi T C 4: 40,209,993 (GRCm39) N692D possibly damaging Het
Scmh1 C A 4: 120,372,416 (GRCm39) H406Q probably benign Het
Slc12a8 A G 16: 33,445,060 (GRCm39) D372G probably damaging Het
Snip1 T C 4: 124,966,545 (GRCm39) F325S possibly damaging Het
Spr-ps1 C T 6: 85,132,181 (GRCm39) noncoding transcript Het
Stk36 A G 1: 74,662,496 (GRCm39) Y538C possibly damaging Het
Svil A G 18: 5,105,879 (GRCm39) probably benign Het
Syne2 A G 12: 76,155,079 (GRCm39) T6787A probably benign Het
Tbcel T G 9: 42,363,014 (GRCm39) M10L probably benign Het
Tesk2 T A 4: 116,599,022 (GRCm39) Y43* probably null Het
Tjp1 C T 7: 64,972,349 (GRCm39) R605Q probably damaging Het
Tmem65 A G 15: 58,662,000 (GRCm39) probably benign Het
Tnnt2 A G 1: 135,769,753 (GRCm39) probably benign Het
Trmt44 T C 5: 35,731,989 (GRCm39) E134G probably benign Het
Ttn G A 2: 76,807,463 (GRCm39) T90I probably damaging Het
Yy1 A G 12: 108,759,466 (GRCm39) E43G unknown Het
Other mutations in Trpv2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Trpv2 APN 11 62,483,681 (GRCm39) missense probably damaging 1.00
Playtar UTSW 11 62,481,086 (GRCm39) missense probably damaging 1.00
PIT4576001:Trpv2 UTSW 11 62,472,027 (GRCm39) missense probably damaging 1.00
R0008:Trpv2 UTSW 11 62,481,086 (GRCm39) missense probably damaging 1.00
R0357:Trpv2 UTSW 11 62,481,130 (GRCm39) missense probably damaging 1.00
R0506:Trpv2 UTSW 11 62,473,732 (GRCm39) missense probably benign 0.06
R0586:Trpv2 UTSW 11 62,483,596 (GRCm39) missense probably benign 0.01
R0690:Trpv2 UTSW 11 62,475,502 (GRCm39) critical splice donor site probably null
R1519:Trpv2 UTSW 11 62,480,652 (GRCm39) critical splice donor site probably null
R1556:Trpv2 UTSW 11 62,483,059 (GRCm39) missense probably damaging 1.00
R1770:Trpv2 UTSW 11 62,487,787 (GRCm39) missense probably benign 0.12
R1772:Trpv2 UTSW 11 62,485,052 (GRCm39) splice site probably benign
R2143:Trpv2 UTSW 11 62,483,612 (GRCm39) missense probably benign 0.05
R4743:Trpv2 UTSW 11 62,483,627 (GRCm39) missense probably benign 0.00
R4795:Trpv2 UTSW 11 62,472,006 (GRCm39) missense possibly damaging 0.89
R5321:Trpv2 UTSW 11 62,475,397 (GRCm39) missense probably damaging 1.00
R6856:Trpv2 UTSW 11 62,475,441 (GRCm39) missense probably benign 0.00
R7024:Trpv2 UTSW 11 62,475,287 (GRCm39) missense probably benign 0.03
R7168:Trpv2 UTSW 11 62,473,914 (GRCm39) missense probably benign 0.19
R7488:Trpv2 UTSW 11 62,480,576 (GRCm39) missense probably damaging 1.00
R7633:Trpv2 UTSW 11 62,481,832 (GRCm39) critical splice donor site probably null
R8215:Trpv2 UTSW 11 62,481,757 (GRCm39) missense probably damaging 0.99
R8878:Trpv2 UTSW 11 62,481,112 (GRCm39) missense probably benign
R9037:Trpv2 UTSW 11 62,475,231 (GRCm39) missense probably damaging 0.99
R9619:Trpv2 UTSW 11 62,480,562 (GRCm39) missense probably damaging 1.00
R9664:Trpv2 UTSW 11 62,475,385 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16